Variant report

Variant	esv3431669
Chromosome Location	chr7:128291532-128292582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:128291764-128292046	K562	blood:	n/a	n/a
2	CTCF	chr7:128291900-128292050	HMEC	breast:	n/a	n/a
3	CTCF	chr7:128291840-128291990	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr7:128291840-128291990	AG09319	gingival:	n/a	n/a
5	CTCF	chr7:128291840-128291990	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr7:128291880-128292030	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:128291820-128291970	GM12872	blood:	n/a	n/a
8	CTCF	chr7:128291880-128292030	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr7:128291840-128291990	AG10803	skin:	n/a	n/a
10	CTCF	chr7:128291900-128292050	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr7:128291900-128292050	GM12866	blood:	n/a	n/a
12	CTCF	chr7:128291840-128291990	GM12873	blood:	n/a	n/a
13	CTCF	chr7:128291840-128291990	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr7:128291880-128292030	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr7:128291860-128292010	NHEK	skin:	n/a	n/a
16	CTCF	chr7:128291867-128291983	HepG2	liver:	n/a	n/a
17	CTCF	chr7:128291840-128291990	GM12874	blood:	n/a	n/a
18	CTCF	chr7:128291840-128291990	K562	blood:	n/a	n/a
19	CTCF	chr7:128291880-128292030	Caco-2	colon:	n/a	n/a
20	CTCF	chr7:128291840-128291990	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr7:128291840-128291990	HCFaa	heart:	n/a	n/a
22	CTCF	chr7:128291880-128292030	GM12871	blood:	n/a	n/a
23	CTCF	chr7:128291840-128291990	GM12864	blood:	n/a	n/a
24	CTCF	chr7:128291840-128291990	SAEC	small airway:	n/a	n/a
25	CTCF	chr7:128291810-128292061	K562	blood:	n/a	n/a
26	CTCF	chr7:128291904-128291995	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:128291896-128291980	GM12878	blood:	n/a	n/a
28	CTCF	chr7:128291820-128291970	HCM	heart:	n/a	n/a
29	CTCF	chr7:128291880-128292030	GM12872	blood:	n/a	n/a
30	CTCF	chr7:128291924-128291983	GM12892	blood:	n/a	n/a
31	CTCF	chr7:128291880-128292030	RPTEC	kidney:	n/a	n/a
32	CTCF	chr7:128291877-128292098	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr7:128291860-128292010	NB4	blood:	n/a	n/a
34	CTCF	chr7:128291907-128291988	Gliobla	brain:	n/a	n/a
35	CTCF	chr7:128291860-128292010	GM12873	blood:	n/a	n/a
36	CTCF	chr7:128291840-128291990	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr7:128291923-128291992	ProgFib	skin:	n/a	n/a
38	CTCF	chr7:128291903-128292005	GM12891	blood:	n/a	n/a
39	CTCF	chr7:128291900-128292050	SAEC	small airway:	n/a	n/a
40	CTCF	chr7:128291880-128292030	NHEK	skin:	n/a	n/a
41	CTCF	chr7:128291892-128292030	K562	blood:	n/a	n/a
42	CTCF	chr7:128291913-128291985	GM12878	blood:	n/a	n/a
43	CTCF	chr7:128291424-128292223	K562	blood:	n/a	n/a
44	CTCF	chr7:128291840-128291990	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr7:128291530-128292073	K562	blood:	n/a	n/a
46	CTCF	chr7:128291840-128291990	HMF	breast:	n/a	n/a
47	CTCF	chr7:128291880-128292030	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr7:128291840-128291990	HPF	lung:	n/a	n/a
49	CTCF	chr7:128291920-128292070	HMEC	breast:	n/a	n/a
50	CTCF	chr7:128291759-128292043	A549	lung:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71F2-1	chr7:128291239-128292388	NONHSAT123224

No data

Variant related genes	Relation type
ENSG00000243679	TF binding region
ENSG00000230715	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573547025	chr7:128291545-128291546	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs538179195	chr7:128291546-128291547	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs556391970	chr7:128291572-128291573	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs370463018	chr7:128291626-128291627	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs577824122	chr7:128291648-128291649	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs545236590	chr7:128291683-128291684	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs560310080	chr7:128291684-128291685	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs572473277	chr7:128291771-128291772	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs569208259	chr7:128291821-128291822	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs71162507	chr7:128291822-128291823	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs543089764	chr7:128291835-128291836	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs561138956	chr7:128291951-128291952	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs531701539	chr7:128291954-128291955	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs550905045	chr7:128291980-128291981	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs562813487	chr7:128291986-128291987	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs62481923	chr7:128292036-128292037	Strong transcription Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs62481924	chr7:128292108-128292109	Strong transcription Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs566643881	chr7:128292190-128292191	Strong transcription Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs533667316	chr7:128292287-128292288	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs549036516	chr7:128292288-128292289	Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs567152248	chr7:128292399-128292400	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs529695282	chr7:128292415-128292416	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs372289248	chr7:128292494-128292495	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs62481925	chr7:128292534-128292535	Strong transcription Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs367654137	chr7:128292554-128292555	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs62481926	chr7:128292569-128292570	Strong transcription Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:77)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:128249600-128295200	Weak transcription	NH-A	brain
5	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
6	chr7:128249600-128308400	Weak transcription	HSMM	muscle
7	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
8	chr7:128249600-128319600	Weak transcription	NHLF	lung
9	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:128262200-128293200	Weak transcription	Brain Germinal Matrix	brain
12	chr7:128272200-128300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:128272400-128292400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:128272400-128293200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:128273800-128291800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:128274200-128296400	Weak transcription	Colonic Mucosa	Colon
17	chr7:128275600-128295000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:128279600-128296200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:128279800-128291800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:128279800-128292600	Weak transcription	Aorta	Aorta
21	chr7:128279800-128292600	Weak transcription	Brain Substantia Nigra	brain
22	chr7:128279800-128293000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:128279800-128293600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:128279800-128296400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:128279800-128300000	Weak transcription	Dnd41	blood
26	chr7:128279800-128301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:128280400-128291800	Weak transcription	Right Ventricle	heart
28	chr7:128281200-128293200	Weak transcription	Ovary	ovary
29	chr7:128281400-128291800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:128281400-128292400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:128281600-128291800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:128282400-128295400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:128282400-128301400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:128282600-128300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:128284000-128291800	Weak transcription	Left Ventricle	heart
37	chr7:128284000-128304800	Weak transcription	Primary T cells from cord blood	blood
38	chr7:128284200-128294600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:128284200-128301400	Weak transcription	Fetal Lung	lung
40	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:128284400-128294400	Weak transcription	Small Intestine	intestine
42	chr7:128284400-128299200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:128285400-128292800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:128285600-128291800	Weak transcription	Adipose Nuclei	Adipose
46	chr7:128285600-128291800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:128285600-128292000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:128285600-128293400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:128285800-128292000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:128285800-128296000	Weak transcription	Rectal Mucosa Donor 31	rectum

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